IndraLab

Statements

COMP activates SCN8A. 8 / 8
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"Interestingly, some autosomal dominant osteochondrodysplasias (PSACH and some MED) are caused by mutations in COMP that interfere with normal extracellular matrix assembly, which is thought to contribute to the development of the patient phenotypes."
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"So far, mutations in COMP and COL9A2 have been shown to cause MED phenotype."
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"In this study, we showed that mutations in Comp that cause PSACH MED result in altered collagen fibril diameters in force loaded tendons and ligaments and is associated with a mild muscle myopathy in the absence of a detectable muscle pathology."
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"The phenotype severity of the reported family seems milder than MED caused by MATN3, COMP, and DTDST mutations, and more severe than in patients with mutations in genes encoding collagen type IX."
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"Such mechanism is similar to that of a point mutation of cartilage oligomeric matrix protein (COMP), which also leads to MED or related pseudoachondroplasia [XREF_BIBR]."
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"The advent of molecular genetics has validated their original hypothesis, and we now suggest that abnormalities in COMP primarily produce severe forms of MED (MED type I), whereas certain mutations in[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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"Mutations in the COMP, COL9A1, COL9A2, COL9A3, MATN3 and SLC26A2 genes cause approximately 70% of multiple epiphyseal dysplasia (MED) cases."
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"Interest in this extracellular matrix protein increased when it was recognized that mutations in COMP caused pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED and EDM1) XREF_BIBR, XREF_BIBR."
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